Indel markers: genetic diversity of 38 polymorphisms in Brazilian populations and application in a paternity investigation with post mortem material.
ABSTRACT Aiming to evaluate the usefulness of 38 non-coding bi-allelic autosomal indels in genetic identification and kinship testing, three Brazilian population samples were studied: two from Rio de Janeiro (including a sample of individuals with self-declared African ancestry) and one Native American population of Terena from Mato Grosso do Sul. Based on the observed allele frequencies, parameters of forensic relevance were calculated. The combined power of discrimination of the 38 indels was high in all studied groups (PD≥0.9999999999997), although slightly lower in Native Americans. Genetic distance analysis showed significant differences between the allele frequencies in the Rio de Janeiro population and those previously reported for Europeans, Africans and Asians explained by its intermediate position between Europeans and Africans. As expected, the Terena sample was significantly different from all the other populations: Brazilians from Rio de Janeiro general population and with self-declared African ancestry, Europeans, Africans and East Asians. Finally, the performance of the 38-indel multiplex assay was tested in post-mortem material with positive results, supporting the use of short amplicon bi-allelic markers as an additional tool to STR analysis when DNA molecules are degraded.
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ABSTRACT: Insertion/deletion (INDELs) marker sets can serve as a useful supplementary tool for human identification. A commercial kit, the Qiagen DIPplex(®) Investigator kit, multiplexes 30 biallelic autosomal INDELs and Amelogenin for forensic use. We performed a validation study based on the DIPplex(®) kit in four Chinese populations: Han, Tibetan, Uyghur, and Kazakh. There were no significant departures from Hardy-Weinberg equilibrium or significant linkage disequilibrium (pair-wised r(2)<0.2) between the 30 INDELs. The random match probabilities were in the range of 3.84×10(-11) to 1.20×10(-12), and the power of exclusion was >0.99. The multiplex PCR was optimized for a 5-μL volume, full profiles were obtained with 0.062ng/μL of template DNA, and excellent performance was obtained with degraded casework samples. This study demonstrates that the multiplex INDEL assay can be used as a supplementary method for degraded DNA detection in the studied Chinese populations.Forensic Science International: Genetics 09/2013; · 3.86 Impact Factor
- Forensic Science International: Genetics 08/2013; · 3.86 Impact Factor
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ABSTRACT: There are many different studies that contribute to the global picture of the ethnic heterogeneity in Brazilian populations. These studies use different types of genetic markers and are focused on the comparison of populations at different levels. In some of them, each geographical region is treated as a single homogeneous population, whereas other studies create different subdivisions: political (e.g., pooling populations by State), demographic (e.g., urban and rural), or ethnic (e.g., culture, self-declaration, or skin colour). In this study, we performed an enhanced reassessment of the genetic ancestry of ~ 1,300 Brazilians characterised for 46 autosomal Ancestry Informative Markers (AIMs). In addition, 798 individuals from twelve Brazilian populations representing the five geographical macro-regions of Brazil were newly genotyped, including a Native American community and a rural Amazonian community. Following an increasing North to South gradient, European ancestry was the most prevalent in all urban populations (with values up to 74%). The populations in the North consisted of a significant proportion of Native American ancestry that was about two times higher than the African contribution. Conversely, in the Northeast, Center-West and Southeast, African ancestry was the second most prevalent. At an intrapopulation level, all urban populations were highly admixed, and most of the variation in ancestry proportions was observed between individuals within each population rather than among population. Nevertheless, individuals with a high proportion of Native American ancestry are only found in the samples from Terena and Santa Isabel. Our results allowed us to further refine the genetic landscape of Brazilians while establishing the basis for the effective application of an autosomal AIM panel in forensic casework and clinical association studies within the highly admixed Brazilian populations.PLoS ONE 01/2013; 8(9):e75145. · 3.53 Impact Factor